A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deep-set eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate, and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to a No. 22 or 22q-. The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the two segments involved in the translocation.
Malformations of limb elements produced in C57BL/10 mice by various dosages of 5-fluoro-2'-deoxycytidine given at day IX or XI were analyzed. This investigation was restricted to the analysis of aplasia, synostosis, synchondrosis, and inhibition of calcification. Teratological patterns were described in detail. Day-IX treatment induced patterns of ulnar, radial, ulnarradial, and tibia1 aplasias. Day-XI treatment produced groups of defects with common characteristics, but no clear teratological patterns. Synostoses, synchondroses, and inhibition of calcification predominated. Dose-response relations occurred after treatment at both stages.
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